|Institutional Source||Beutler Lab|
|Gene Name||TAR RNA binding protein 1|
|Is this an essential gene?||Non essential (E-score: 0.000)|
|Stock #||R1628 (G1)|
|Chromosomal Location||126425329-126475065 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to G at 126430860 bp|
|Amino Acid Change||Phenylalanine to Leucine at position 1303 (F1303L)|
|Ref Sequence||ENSEMBL: ENSMUSP00000129815 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000170518]|
|Predicted Effect||possibly damaging
AA Change: F1303L
PolyPhen 2 Score 0.783 (Sensitivity: 0.85; Specificity: 0.93)
AA Change: F1303L
|Meta Mutation Damage Score||0.2710|
|Coding Region Coverage||
|Validation Efficiency||99% (75/76)|
|MGI Phenotype||FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] HIV-1, the causative agent of acquired immunodeficiency syndrome (AIDS), contains an RNA genome that produces a chromosomally integrated DNA during the replicative cycle. Activation of HIV-1 gene expression by the transactivator Tat is dependent on an RNA regulatory element (TAR) located downstream of the transcription initiation site. This element forms a stable stem-loop structure and can be bound by either the protein encoded by this gene or by RNA polymerase II. This protein may act to disengage RNA polymerase II from TAR during transcriptional elongation. Alternatively spliced transcripts of this gene may exist, but their full-length natures have not been determined. [provided by RefSeq, Jul 2008]|
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Tarbp1||
(F):5'- TTCACAACGTCACAGGGTCAAGG -3'
(R):5'- AACGTGAGAACATTTCTATGTGGCAGT -3'
(F):5'- CACAGGGTCAAGGGGACAG -3'
(R):5'- ccataaacctaaacttccccaaac -3'